ノンコーディングリピート伸長病の発見とリピートモチーフ・表現型関連
Author:
Affiliation:
1. Department of Neurology, Faculty of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
Publisher
Okayama Medical Association
Subject
General Medicine
Link
https://www.jstage.jst.go.jp/article/joma/135/2/135_72/_pdf
Reference18 articles.
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3. Multiple-System Atrophy Research Collaboration : Mutations in COQ2 in familial and sporadic multiple-system atrophy. N Engl J Med (2013) 369, 233-244.
4. Mitsui J, Matsukawa T, Uemura Y, Kawahara T, Chikada A, et al. : High-dose ubiquinol supplementation in multiple-system atrophy : a multicentre, randomised, double-blinded, placebo-controlled phase 2 trial. EClinicalMedicine (2023) 59, 101920.
5. Ishiura H, Fukuda Y, Mitsui J, Nakahara Y, Ahsan B, et al. : Posterior column ataxia with retinitis pigmentosa in a Japanese family with a novel mutation in FLVCR1. Neurogenetics (2011) 12, 117-121.
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